| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104831027T>A | CA374323033 | ABCA1 | c.1790A>T (p.Gln597Leu) c.1610A>T (p.Gln537Leu) c.1865A>T (p.Gln622Leu) c.1427A>T (p.Gln476Leu) c.1727A>T (p.Gln576Leu) n.2178A>T | dbSNP gnomAD v4 |
| 9 | g.104831027T>C | CA120478 | ABCA1 | c.1790A>G (p.Gln597Arg) c.1610A>G (p.Gln537Arg) c.1865A>G (p.Gln622Arg) c.1427A>G (p.Gln476Arg) c.1727A>G (p.Gln576Arg) n.2178A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831027T= | CA1869924009 | ABCA1 | c.1790A= (p.Gln597=) c.1610A= (p.Gln537=) c.1865A= (p.Gln622=) c.1427A= (p.Gln476=) c.1727A= (p.Gln576=) n.2178A= | dbSNP |